ClinVar Miner

Submissions for variant NM_001182.5(ALDH7A1):c.1207G>A (p.Asp403Asn) (rs796052262)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186740 SCV000240307 uncertain significance not provided 2013-03-01 criteria provided, single submitter clinical testing p.Asp403Asn (GAT>AAT): c.1207 G>A in exon 14 of the ALDH7A1 gene (NM_001182.3). The Asp403Asn missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Asp403Asn in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a negatively charged, Aspartic acid residue is replaced by an uncharged, Arginine residue. Missense mutations have been reported at nearby codons in association with pyridoxine-dependent epilepsy. However, Asp403Asn does not alter a conserved position in the protein and in-silico algorithms are not consistent in their predictions of whether it is damaging to the structure/function of the protein. Therefore, based on the currently available information, it is unclear whether Asp403Asn is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.